18th Edition – October 2012

Could autism brain changes be reversed?

Autism Spectrum Disorders (ASD) refers to a complex of different conditions. In some cases autism is present together with other conditions (e.g. epilepsy) as part of a syndrome caused by a single, specific gene mutation (e.g. Fragile X), but in the majority of patients its causes are largely unknown and could include different genetic and environmental factors. Certain brain changes in syndromes with autism appear to be reversible, and new research from the IMI-funded EU-AIMS project suggests that this may also be the case for the broader autism population. The study, published in Science, looked at the effects of the loss of the neuroligin-3 gene in mice. Neuroligin-3 is involved in the transmission of nerve signals and has been linked to heritable forms of autism. In this study, researchers found that mice lacking neuroligin-3 produced unusually high levels of a specific glutamate receptor. Glutamate receptors are proteins that are known to be involved in memory and learning; the high levels of glutamate receptor production in the mice in this study impaired the learning process, thereby disrupting brain development in the long term. However, the researchers did not stop there – they reactivated neurligin-3 production in the mice and found that this effectively returned glutamate receptor production levels to normal. Furthermore, the structural, autism-like defects in the brains of the mice disappeared. The findings suggest that there may be common deficits in the brains of individuals affected by many different forms of autism, and that drugs designed to target these glutamate receptors could halt the development of autism or even reverse it. The work was widely covered in the press, including in the Wall Street Journal and on Swiss TV (in French).

SUMMIT software sets new standards for genome scanning

Scientists from the IMI-funded SUMMIT project have developed a software tool that beats the current state of the art when it comes to scanning multiple genomes for mutations that could raise people’s risk of developing a specific disease or condition. Scientists regularly scan and compare the genomes of large numbers of people, some healthy and some with the disease under investigation, hunting for Single Nucleotide Polymorphisms (SNPs – mutations where just one letter of the DNA code is changed) that could help to explain people’s genetic predisposition to the disease. Writing in the journal BMC Bioinformatics, the SUMMIT researchers set out how they tested their new ‘Bag of Naïve Bays’ (BoNB) software to identify SNPs that could predict the development of type 1 diabetes. They also compared BoNB’s performance against that of two other algorithms used in these studies. Not only did BoNB successfully identify the genetic markers already known to be associated with a raised risk of type 1 diabetes, it outperformed the two other algorithms tested in terms of predicted risk accuracy. The SUMMIT team will now use BoNB to identify the genetic factors that raise people’s risk of developing diabetes-related complications, such as eye, kidney, and blood vessel problems. The source code of the BoNB algorithm is available online.

eTOX library goes public

Since its launch in April 2010, IMI toxicology project eTOX has been compiling a vast library of information and data on the toxicology field. Now the project team has decided to make its eTOX Library available to the public, so that scientists outside eTOX can benefit from it. The library has three sections. Under Articles, the project provides links to relevant journal articles; each reference has a list of keywords and a synopsis highlighting the article’s relevance to eTOX’s goals. The Journals section includes links to journals that cover toxicology issues, and the Links section includes links to public databases, computer modelling tools, projects, and more. For their part, eTOX researchers are using the library to identify new data that can be integrated into the project’s databases, find out about new computational models, and identify potential drug targets and biological markers relevant to toxicity. The library is updated regularly.

SafeSciMET courses – sign up now!

SafeSciMET, the IMI Education & Training program for Safety Scientists, has successfully completed its first cycle of courses in 2012, with participants giving very positive feedback. The project has now announced the start of the second course cycle, which runs from 2012 to 2014. Registration is already open for a number of courses, including Drug safety of stem cells and other novel therapeutics (26-30 November, Liverpool, UK). Topics covered in this course include the basic biology of stem cells and molecular therapies, drug safety aspects of novel therapies, the regulatory requirements for stem cells and novel therapies, and the application of stem cells in the safety assessment of conventional compounds. A full list of forthcoming courses can be found online.
  - Download an overview of the courses planned up until August 2014.

First EUPATI public workshop attracts over 100 participants

Over 100 people from 24 countries signed up to IMI Education & Training project EUPATI’s inaugural public workshop, which was held in Frankfurt, Germany in early September. The goal of the event was to gather feedback on the initial findings of the project, which aims to create a European Patients’ Academy on Therapeutic Innovation. ‘Nothing is set in stone,’ commented Project Coordinator Nicola Bedlington of the European Patients’ Forum. ‘We have a framework and clear ideas, but the input of all participants, being experts with different backgrounds and form different geographical areas, is absolutely vital to shape what we do. The floor is open.’ Items on the agenda in Frankfurt included how to raise awareness of EUPATI, how to establish national platforms, how to enhance the collection of information, and how to ensure that as many patients as possible benefit from the information generated by EUPATI. A full report of the workshop, as well as photos and webstreams from the workshops, are available from the project website